Publications

Selected Publications

Yang C, Farias FHG, Ibanez L, Suhy A, Sadler B, Fernandez MV, Wang F, Bradley JL, Eiffert B, Bahena JA, Budde JP, Li Z, Dube U, Sung YJ, Mihindukulasuriya KA, Morris JC, Fagan AM, Perrin RJ, Benitez BA, Rhinn H, Harari O, Cruchaga C. Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders. Nat Neurosci. 2021 Jul 8. doi: 10.1038/s41593-021-00886-6. Epub ahead of print. PMID: 34239129.
Read the news for this paper here
Yuetiva Deming, Fabia Filipello, Francesca Cignarella, Claudia Cantoni, Simon Hsu, Robert Mikesell, Zeran Li, Jorge L Del-Aguila, Umber Dube, Fabiana Geraldo Farias, Joseph Bradley, Bruno Benitez, John Budde, Laura Ibanez, Maria Victoria Fernandez,…,  Oscar Harari, Christian Haass, Thomas J Brett, Celeste M. Karch, Laura Piccio, Carlos Cruchaga. The MS4A gene cluster is a key regulator of soluble TREM2 and Alzheimer disease risk. Sci Transl Med. 2019 Aug 14;11(505). pii: eaau2291. doi: 10.1126/scitranslmed.aau2291. PMID: 31413141
Read the news for this paper here
Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, Martinez R, Hsu S, Fernandez MV, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN); International FTD-Genomics Consortium (IFGC), Harari O, Cruchaga C, Karch CM.  Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.  Transl Psychiatry. 2018; 8(1):265.
This paper was among the 2018 Editor’s picks for Translational Psychiatry
Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K, Carrell D, Cai Y, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Huang KL, Bertelsen S,…, Fagan AM, Holtzman DM, Morris JC, Kim S, Saykin AJ, De Jager PL,  Kauwe JS, Goate AM, Cruchaga C.  Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers. Acta Neuropathol. 2017; 133(5):839-856. PMCID: PMC5613285
Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu     S, Choi J, Ryten M; UK Brain Expression Consortium, … Cairns N, Morris JC, Kauwe JS, Goate AM. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. Nature 2014; 505(7484):550-4.  PMCID: PMC4050701

2022
  1. Wang L, Western D, Timsina J, Repaci C, Song WM, Norton J, Kohlfeld P, Budde J, Climer S, Butt OH, Jacobson D, Garvin M, Templeton AR, Campagna S, O’Halloran J, Presti R, Goss CW, Mudd PA, Ances BM, Zhang B, Sung YJ, Cruchaga C. Plasma proteomics of SARS-CoV-2 infection and severity reveals impact on Alzheimer and coronary disease pathways. medRxiv. 2022 Jul 25:2022.07.25.22278025. doi: 10.1101/2022.07.25.22278025
  1. Timsina J, Gomez-Fonseca D, Wang L, Do A, Western D, Alvarez I, Aguilar M, Pastor P, Henson RL, Herries E, Xiong C, Schindler SE, Fagan AM, Bateman RJ, Farlow M, Morris JC, Perrin R, Moulder K, Hassenstab J, Chhatwal J, Mori H; Alzheimer’s Disease Neuroimaging Initiative; Dominantly Inherited Alzheimer Network Consortia, Sung YJ, Cruchaga C. Comparative Analysis of Alzheimer’s Disease Cerebrospinal Fluid Biomarkers Measurement by Multiplex SOMAscan Platform and Immunoassay-Based Approach. J Alzheimers Dis. 2022 Jul 16. doi: 10.3233/JAD-220399.
  2. Ali M, Sung YJ, Wang F, Fernández MV, Morris JC, Fagan AM, Blennow K, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Nellgård B, Lleó A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suárez-Calvet M, Morenas-Rodríguez E, Kleinberger G, Haass C, Ewers M, Levin J, Farlow MR, Perrin RJ; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Dominantly Inherited Alzheimer Network (DIAN), Cruchaga C. Leveraging large multi-center cohorts of Alzheimer disease endophenotypes to understand the role of Klotho heterozygosity on disease risk. PLoS One. 2022 May 26;17(5):e0267298. doi: 10.1371/journal.pone.0267298. eCollection 2022.
  3. Cruchaga C. Integrating functional genomics with genetics to understand the biology of ALS and FTD. Med (N Y). 2022 Apr 8;3(4):226-227. doi: 10.1016/j.medj.2022.03.008
  4. Chen HH, Eteleeb A, Wang C, Fernandez MV, Budde JP, Bergmann K, Norton J, Wang F, Ebl C, Morris JC, Perrin RJ, Bateman RJ, McDade E, Xiong C, Goate A, Farlow M, Chhatwal J, Schofield PR, Chui H, Harari O, Cruchaga C, Ibanez L; Dominantly Inherited Alzheimer Network. Circular RNA detection identifies circPSEN1 alterations in brain specific to autosomal dominant Alzheimer’s disease. Acta Neuropathol Commun. 2022 Mar 4;10(1):29. doi: 10.1186/s40478-022-01328-5.
  5. Ibanez L, Heitsch L, Carrera C, Farias FHG, Del Aguila JL, D, Rodríguez-Yáñez M, Herbosa C, Ford AL, Gutierrez-Romero A, Uribe-Pacheco R, Arauz A, Lopes-Cendes I, Lowenkopf T, Barboza MA, Amini H, Stamova B, Ander BP, Sharp FR, Kim GM, Bang OY, Jimenez-Conde J, Slowik A, Stribian D, Tsai EA, Burkly LC, Montaner J, Fernandez-Cadenas I, Lee JM, Cruchaga C. Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke. Brain. 2022 Jul 29;145(7):2394-2406. doi: 10.1093/brain/awac080.
2021
  1. Da Mesquita S, Papadopoulos Z, Dykstra T, Brase L, Farias FG, Wall M, Jiang H, Kodira CD, de Lima KA, Herz J, Louveau A, Goldman DH, Salvador AF, Onengut-Gumuscu S, Farber E, Dabhi N, Kennedy T, Milam MG, Baker W, Smirnov I, Rich SS; Dominantly Inherited Alzheimer Network, Benitez BA, Karch CM, Perrin RJ, Farlow M, Chhatwal JP, Holtzman DM, Cruchaga C*, Kipnis J. Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy. Nature. 2021 May;593(7858):255-260. doi: 10.1038/s41586-021-03489-0. Epub 2021 Apr 28. PMID: 33911285
  2. Yang C, Farias FHG, Ibanez L, Suhy A, Sadler B, Fernandez MV, Wang F, Bradley JL, Eiffert B, Bahena JA, Budde JP, Li Z, Dube U, Sung YJ, Mihindukulasuriya KA, Morris JC, Fagan AM, Perrin RJ, Benitez BA, Rhinn H, Harari O, Cruchaga C. Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders. Nat Neurosci. 2021 Jul 8. doi: 10.1038/s41593-021-00886-6.
  3. Ibanez L, Cruchaga C, Fernández MV. Advances in Genetic and Molecular Understanding of Alzheimer’s Disease. Genes (Basel). 2021 Aug 15;12(8):1247. doi: 10.3390/genes12081247.
  4. Kirola L, Budde JP, Wang F, Norton J, Morris JC; NIA-LOAD family study group, NCRAD, the ADSP project, Cruchaga C, Fernández MV. Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer’s disease in the European American population. Acta Neuropathol. 2021 Feb 16. doi: 10.1007/s00401-021-02271-w
  5. Heitsch L, Ibanez L, Carrera C, Binkley MM, Strbian D, Tatlisumak T, Bustamante A, Ribó M, Molina C, Dávalos A, López-Cancio E, Muñoz-Narbona L, Soriano-Tárraga C, Giralt-Steinhauer E, Obach V, Slowik A, Pera J, Lapicka-Bodzioch K, Derbisz J, Sobrino T, Castillo J, Campos F, Rodríguez-Castro E, Arias-Rivas S, Segura T, Serrano-Heras G, Vives-Bauza C, Díaz-Navarro R, Tur S, Jimenez C, Martí-Fàbregas J, Delgado-Mederos R, Arenillas J, Krupinski J, Cullell N, Torres-Aguila NP, Muiño E, Cárcel-Márquez J, Moniche F, Cabezas JA, Ford AL, Dhar R, Roquer J, Khatri P, Jiménez-Conde J, Fernandez-Cadenas I, Montaner J, Rosand J, Cruchaga C, Lee J-M. Early Neurological Change After Ischemic Stroke Is Associated With 90-Day Outcome. Stroke. 2021;52(1):132-141. doi:10.1161/STROKEAHA.119.028687
  6. Farias FHG, Benitez BA, Cruchaga C. Quantitative endophenotypes as an alternative approach to understanding genetic risk  in neurodegenerative diseases. Neurobiol Dis. Published online January 2021:105247. doi:10.1016/j.nbd.2020.105247
2020
  1. Olive C, Ibanez L, Farias FHG, Wang F, Budde JP, Norton JB, Gentsch J, Morris JC, Li Z, Dube U, Del-Aguila J, Bergmann K, Bradley J, Benitez BA, Harari O, Fagan A, Ances B, Cruchaga C, Fernandez MV. Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through  Multiple Phenotypes. J Alzheimers Dis. 2020;77(4):1469-1482. doi:10.3233/JAD-200019
  2. Li Z, Farias FHG, Dube U, Del-Aguila JL, Mihindukulasuriya KA, Fernandez MV, Ibanez L, Budde JP, Wang F, Lake AM, Deming Y, Perez J, Yang C, Bahena JA, Qin W, Bradley JL, Davenport R, Bergmann K, Morris JC, Perrin RJ, Benitez BA, Dougherty JD, Harari O, Cruchaga C. The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased  neuronal proportion. Acta Neuropathol. 2020;139(1):45-61. doi:10.1007/s00401-019-02066-0
  3. Ibanez L, Heitsch L, Carrera C, Farias FHG, Dhar R, Budde J, Bergmann K, Bradley J, Cruchaga C, et al. Multi-ancestry genetic study in 5,876 patients identifies an association between  excitotoxic genes and early outcomes after acute ischemic stroke. medRxiv  Prepr Serv Heal Sci. Published online November 2020. doi:10.1101/2020.10.29.20222257
  4. Ibanez L, Bahena JA, Yang C, Dube U, Farias FHG, Budde JP, Bergmann K, Brenner-Webster C, Morris JC, Perrin RJ, Cairns NJ, O’Donnell J, Álvarez I, Diez-Fairen M, Aguilar M, Miller R, Davis AA, Pastor P, Kotzbauer P, Campbell MC, Perlmutter JS, Rhinn H, Harari O, Cruchaga C, Benitez BA. Functional genomic analyses uncover APOE-mediated regulation of brain and  cerebrospinal fluid beta-amyloid levels in Parkinson disease. Acta Neuropathol Commun. 2020;8(1):196. doi:10.1186/s40478-020-01072-8
  5. Dube U, Ibanez L, Budde JP, Benitez BA, Davis AA, Harari O, Iles MM, Law MH, Brown KM, Cruchaga C. Overlapping genetic architecture between Parkinson disease and melanoma. Acta Neuropathol. 2020;139(2):347-364. doi:10.1007/s00401-019-02110-z
2019
  1. Umber Dube, Jorge L Del-Aguila, Zeran Li, John P Budde, Shan Jiang, Simon Hsu Laura Ibanez, Maria Victoria Fernandez, Fabiana Farias, Joanne Norton, Jen Gentsch, Fengxian Wang, the Dominantly Inherited Alzheimer Network (DIAN), Stephen Salloway, Colin L Masters, Jae-Hong Lee, Neill R Graff-Radford, Jasmeer P Chhatwal, Randall J Bateman, John C Morris, Celeste M Karch, Oscar Harari, and Carlos Cruchaga. An atlas of cortical circular RNA expression demonstrates clinical and pathological associations with Alzheimer disease. Nature Neuroscience. 2019 Oct 3. DOI: 10.1038/s41593-019-0501-5
  2. Yuetiva Deming, Fabia Filipello, Francesca Cignarella, Claudia Cantoni, Simon Hsu, Robert Mikesell, Zeran Li, Jorge L Del-Aguila, Umber Dube, Fabiana Geraldo Farias, Joseph Bradley, Bruno Benitez, John Budde, Laura Ibanez, Maria Victoria Fernandez, Alzheimer’s Disease Neuroimaging Initiative (ADNI), Dominantly Inherited Alzheimer Network (DIAN), Kaj Blennow, Henrik Zetterberg, Amanda Heslegrave, Per M Johansson, Johan Svensson, Bengt Nellgård, Alberto Lleo, Daniel Alcolea, Jordi Clarimon, Lorena Rami, José Luis Molinuevo, Marc Suarez-Calvet, Estrella Morenas-Rodríguez, Gernot Kleinberger, Michael Ewers, Oscar Harari, Christian Haass, Thomas J Brett, Celeste M. Karch, Laura Piccio, Carlos Cruchaga The MS4A gene cluster is a key regulator of soluble TREM2 and Alzheimer disease risk. Science Translation Medicine. Sci Transl Med. 2019 Aug 14;11(505). pii: eaau2291. doi: 10.1126/scitranslmed.aau2291 PMID: 31413141
  3. del-Aguila JL, Benitez BA, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Farias FHG, Fernández MV, Ibanez L, Jiang S, Perrin RJ, Cairns NJ, Morris JC, Harari O, Cruchaga C. TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers. Mol Neurodegener. 2019 May 8;14(1):18. doi: 10.1186/s13024-019-0319-3 PMID: 31068200
  4. Ibanez L, Heitsch L, Dube U, Farias FHG, Budde J, Bergmann K, Davenport R, Bradley J, Carrera C, Kinnunen J, Sallinen H, Strbian D, Slowik A, Fernandez-Cadenas I, Montaner J, Lee JM, Cruchaga C.Overlap in the Genetic Architecture of Stroke Risk, Early Neurological Changes, and Cardiovascular Risk Factors.  Stroke. 2019; 50(6):1339. doi: 10.1161/STROKEAHA.118.023097 PMCID: PMC6538457
2018
  1. Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, Martinez R, Hsu S, Fernandez MV, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN); International FTD-Genomics Consortium (IFGC), Harari O, Cruchaga C, Karch CM.  Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.  Transl Psychiatry. 2018; 8(1):265.
  2. Yan Q, Nho K, Del-Aguila JL, Wang X, Risacher SL, Fan KH, Snitz BE, Aizenstein HJ, Mathis CA, Lopez OL, Demirci FY, Feingold E, Klunk WE, Saykin AJ; Alzheimer’s Disease Neuroimaging Initiative (ADNI), Cruchaga C, Kamboh MI.  Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.  Mol Psychiatry. 2018; Oct 25. doi: 10.1038/s41380-018-0246-7  PMCID:PMC6219464
  3. Maxwell TJ, Corcoran C, Del-Aguila JL, Budde JP, Deming Y, Cruchaga C, Goate AM, Kauwe JSK; Alzheimer’s Disease Neuroimaging Initiative. Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels. Alzheimers Res Ther. 2018; 10(1):86.  PMCID: PMC6114488
  4. Karch CM, Hernández D, Wang JC, Marsh J, Hewitt AW, Hsu S, Norton J, Levitch D, Donahue T, Sigurdson W, Ghetti B, Farlow M, Chhatwal J, Berman S, Cruchaga C, Morris JC, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN), Pébay A, Goate AM.  Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. Alzheimers Res Ther. 2018; 10(1):69.  PMCID: PMC6060509
  5. Hsu S, Gordon BA, Hornbeck R, Norton JB, Levitch D, Louden A, Ziegemeier E, Laforce R Jr, Chhatwal J, Day GS, McDade E, Morris JC, Fagan AM, Benzinger TLS, Goate AM, Cruchaga C, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN), Karch CM. Discovery and validation of autosomal dominant Alzheimer’s disease mutations.  Alzheimers Res Ther. 2018; 10(1):67.  PMCID: PMC6052673
  6. Deming Y, Dumitrescu L, Barnes LL, Thambisetty M, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL, Kukull W, Huentelman M, Crane PK, Resnick SM, Keene CD, Montine TJ, Schellenberg GD, …, Cox NJ; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetics Consortium (ADGC), Goate AM, Bennett DA, Schneider JA, Jefferson AL, Cruchaga C, Hohman TJ.  Sex-specific genetic predictors of Alzheimer’s disease biomarkers. Acta Neuropathol. 2018; 136(6) 857-872.  PMCID: PMC6280657
  7. Deming Y, Li Z, Benitez BA, Cruchaga C.  Triggering receptor expressed on myeloid cells 2 (TREM2): a potential therapeutic target for Alzheimer disease?  Expert Opin Ther Targets. 2018; 22(7):587-598.  PMCID: PMC6295143
  8. Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, Xiao Q, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN), Dougherty JD, Lee JM, Morris JC, Bateman RJ, Karch CM, Cruchaga C, Harari O.  Genetic variants associated with Alzheimer’s disease confer different cerebral cortex cell-type population structure. Genome Med. 2018; 10(1):43.  PMCID: PMC5992755
  9. Ibanez L, Dube U, Davis AA, Fernandez MV, Budde J, Cooper B, Diez-Fairen M, Ortega-Cubero S, Pastor P, Perlmutter JS, Cruchaga C, Benitez BA. Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease. Front Neuroscience 2018; 12:230. doi: 10.3389/fnins.2018.00230   PMCID: PMC59027
  10. Fernández MV, Budde J, Del-Aguila JL, Ibañez L, Deming Y, Harari O, Norton J, Morris JC, Goate AM; NIA-LOAD family study group; NCRAD, Cruchaga C. Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease. Front Neuroscience 2018; 12:209.  PMCID: PMC5893779
  11. Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD Jr, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, et al.  Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.  Nat Genet 2018; 50(4):524-537. PMCID: PMC5968830
  12. Del-Aguila JL, Fernández MV, Schindler S, Ibanez L, Deming Y, Ma S, Saef B, Black K, Budde J, Norton J, Chasse R; Alzheimer’s Disease Neuroimaging Initiative (ADNI), Harari O, Goate A, Xiong C, Morris JC, Cruchaga C.  Assessment of the Genetic Architecture of Alzheimer’s Disease Risk in Rate of Memory Decline. J Alzheimers Dis. 2018; 62(2):745-756. PMCID: PMC5989565<\
  13. Cruchaga C, Del-Aguila JL, Saef B, Black K, Fernandez MV, Budde J, Ibanez L, Kapoor M, Tosto G, Mayeux RP, Holtzman DM, Fagan AM, Morris JC, Bateman RJ, Goate AM; Dominantly Inherited Alzheimer Network (DIAN); Disease Neuroimaging Initiative (ADNI); NIA-LOAD family study, Harari O. Polygenic risk score of sporadic late-onset Alzheimer’s disease reveals a shared architecture with the familial and early-onset forms. Alzheimers Dement 2018; (2):205-214. PMCID:PMC5803427

2017
  1. Huang KL, Marcora E, Pimenova AA, DiNarzo AF, Kapoor M, Jin SC, Harari O, Bertelsen S, Fairfax BP, Czajkowski J, Kauwe JSK, Cruchaga C, Hao K, Goate AM. A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer’s disease.  Nat Neuroscience 2017. 20(8):1052-1061. PMCID: PMC5759334
  2. Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Gonzalez Murcia JD, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, Hardy J, Munger R, Norton M, Sassi C, Singleton A, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Cruchaga C, Goate AM, Corcoran C, Tschanz J, Cannon-Albright LA, Kauwe JSK; Alzheimer’s Disease Neuroimaging Initative.  Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience.  Genome Med. 2017; 9(1):100.  PMCID: PMC5706401
  3. Ibanez L, Dube U, Saef B, Budde J, Black K, Medvedeva A, Del-Aguila JL, Davis AA, Perlmutter JS, Harari O, Benitez BA, Cruchaga C. (2017 November). Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels. BMC Neurol. 2017 Neurol 17(1):198. PMID:29141588; PMCID:PMC5688622
  4. Fernández MV, Kim JH, Budde JP, Black K, Medvedeva A, Saef B, Deming Y, Del-Aguila J, Ibañez L, Dube U, Harari O, Norton J, Chasse R, Morris JC, Goate A; NIA-LOAD family study group; NCRAD, Cruchaga C. Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease. PLoS Genet. 2017;13(11):e1007045. doi: 0.1371/journal.pgen.1007045. PMCID: PMC5683650
  5. Huang KL, Marcora E, Pimenova AA, Di Narzo AF, Kapoor M, Jin SC, Harari O, Bertelsen S, Fairfax BP, Czajkowski J, Chouraki V, Del-Aguila JL, Fernandez MV, Ibañez L; International Genomics of Alzheimer’s Project; Alzheimer’s Disease Neuroimaging Initiative, Sims R, Escott-Price V, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Lambert JC, van Duijn C, Launer L, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Zhang B, Borecki I, Kauwe JSK, Cruchaga C, Hao K, Goate AM.  A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer’s disease. Nat Neurosci. 2017; 20(8):1052-1061.  PMCID: PMC5759334
  6. Ibanez L, Dube U, Budde J, Black K, Medvedeva A, Davis AA, Perlmutter JS, Benitez BA, Cruchaga C.  TMEM230 in Parkinson’s disease. Neurobiol Aging. 2017; 56:212.  PMCID: PMC5526081
  7. Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K, Carrell D, Cai Y, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Huang KL, Bertelsen S, Fagan AM, Holtzman DM, Morris JC, Kauwe JS, Goate AM, Cruchaga C.  Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers. Acta Neuropathol. 2017; 133(5):839-856. PMCID: PMC5613285
2016
  1. Deming Y, Black K, Carrell D, Cai Y, Del-Aguila JL, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Bertelsen S, Huang KL, Sutphen CL, Tarawneh R, Fagan AM, Holtzman DM, MorrisJC, Goate AM, Dougherty JD, Cruchaga C.  Chitinase-3-like 1 protein (CHI3L1) locus Influences cerebrospinal fluid levels of YKL-40.  BMC Neurol 2016; 16(1):217. PMCID:  PMC5105244
  2. Fernández MV, Black K, Carrell D, Saef B, Budde J, Deming Y, Howells B, Del-Aguila JL, Ma S, Bi C, Norton J, Chasse R, Morris J, Goate A, Cruchaga C; NIA-LOAD family study group, NCRAD.  SORL1 variants across Alzheimer’s disease European American cohorts.  Eur J Hum Genet 2016; 24(12):1828-1830. PMCID: PMC5117924
  3. Harari O, Cruchaga C.; Paving the road for the study of epigenetics in neurodegenerative diseases. Acta Neuropathol 2016; 132(4):483-5. 
  4. Deming Y, Xia J, Cai Y, Lord J, Del-Aguila JL, Fernandez MV, Carrell D, Black K, Budde J, Ma S, Saef B, Howells B, Bertelsen S, Bailey M, Ridge PG, Alzheimer’s Disease Neuroimaging Initiative (ADNI), Holtzman D, Morris JC, Bales K, Pickering EH, Lee JM, Heitsch L, Kauwe J, Goate A, Piccio L, Cruchaga C. Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits. Sci Rep. 2016; 6: 18092. PMCID: PMC4698720
  5. Benitez BA, Davis AA, Jin SC, Ibanez L, Ortega-Cubero S, Pastor P, Choi J, Cooper B, Perlmutter JS, Cruchaga C.  Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease. Mol Neurodegeneration  2016; 11:29.  PMCID: PMC4837564
  6. Piccio L, Deming Y, Del-Águila JL, Ghezzi L, Holtzman DM, Fagan AM, Fenoglio C, Galimberti D, Borroni B, Cruchaga C.  Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status.  Acta Neuropathol 2016; 131(6):925-33.  PMCID: PMC4867123
  7. Davis AA, Andruska KM, Benitez BA, Racette BA, Perlmutter JS, Cruchaga C. Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression.  Neurobiol Aging 2016; 37:209.  PMCID: PMC4688052
  8. Deming Y, Xia J, Cai Y, Lord J, Holmans P, Bertelsen S, Holtzman D, Morris JC, Bales K, Pickering EH, Kauwe J, Goate A, Cruchaga C; Alzheimer’s Disease Neuroimaging Initiative (ADNI).  A potential endophenotype for Alzheimer’s disease: cerebrospinal fluid clusterin. Neurobiol Aging 2016; 37:208.  PMCID:  PMC5118651
  9. Jin SC, Benitez BA, Deming Y, Cruchaga C.  Pooled-DNA sequencing for Elucidating new genomic risk factors, rare variants underlying Alzheimer’s Disease.  Methods Mol Biol 2016; 1303:299-314.
2015
  1. Del-Aguila JL, Fernández MV, Jimenez J, Black K, Ma S, Deming Y, Carrell D, Saef B; Alzheimer’s Disease Neuroimaging Initiative, Howells B, Budde J, Cruchaga C. Role of ABCA7 loss-of-function variant in Alzheimer’s disease: a replication study in European-Americans.  Alzheimer’s Res Ther 2015; 7(1):73.  PMCID: PMC4675010
  2. Benitez BA, Cairns NJ, Schmidt RE, Morris JC, Norton JB, Cruchaga C, Sands MS. Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.  Acta Neuropathol Commun 2015; 3(1):73. PMCID: PMC4660676
  3. Del-Aguila JL, Koboldt DC, Black K, Chasse R, Norton J, Wilson RK, Cruchaga C. Alzheimer’s disease: rare variants with large effect sizes.  Curr Opin Genet Dev 2015; 33:49-55.
  4. Jin SC, Carrasquillo MM, Benitez BA, Skorupa T, Carrell D, Patel D, Lincoln S, Krishnan S, Kachadoorian M, Reitz C, Mayeux R, Wingo TS, Lah JJ, Levey AI, Murrell J, Hendrie H, Foroud T, Graff-Radford NR, Goate AM, Cruchaga C, Ertekin-Taner N.  TREM2 is associated with increased risk for Alzheimer’s disease in African Americans.  Mol Neurodegeneration 2015; 10(1):19.  PMCID: PMC4426167
2014
  1. Wetzel-Smith MK, Hunkapiller J, Bhangale TR, Srinivasan K, Maloney JA, Atwal JK, Sa SM, B Yaylaoglu M, Foreman O, Ortmann W, Rathore N, Hansen DV, Tessier-Lavigne M; Alzheimer’s Disease Genetics Consortium, Mayeux R, Pericak-Vance M, Haines J, Farrer LA, Schellenberg GD, Goate A, Behrens TW, Cruchaga C*, Watts RJ, Graham RR. A rare mutation in UNC5C predisposes to late-onset Alzheimer’s disease and increases neuronal cell death. Nat Med 2014; 20(12): 1452-7. PMCID: PMC4301587
  2. Lord J, Lu AJ, Cruchaga C. Identification of rare variants in Alzheimer’s disease. Front Genet 2014; 5:369. PMCID: PMC4211559
  3. Kauwe JS, Bailey MH, Ridge PG, Perry R, Wadsworth ME, Hoyt KL, Staley LA, Karch CM, Harari O, Cruchaga C, Ainscough BJ, Bales K, Pickering EH, Bertelsen S; the Alzheimer’s Disease Neuroimaging Initiative, Fagan AM, Holtzman DM, Morris JC, Goate AM. Genome-Wide Association Study of CSF Levels of 59 Alzheimer’s Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation. PloS Genet 2014; 10(10):e1004758. PMCID: PMC4207667.
  4. Lord, J and Cruchaga C. The Epigenetic Landscape of Alzheimer’s Disease. Nature Neuroscience 2014; 17(9):1138-40.
  5. Karch CM, Cruchaga C, and Goate AM. Alzheimer’s Disease Genetics: From the bench to the clinic. Neuron 2014; 83(1):11-26. Review PMCID:  PMC4120741.
  6. Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton J, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM and Cruchaga C. Coding variants in TREM2 increase risk for Alzheimer’s disease. Human Mol. Genet 2014; 23(21):5838-46.  PMCID: PMC4189899.
  7. Cruchaga C, Ebbert MT, Kauwe JS. Genetic discoveries in AD using CSF amyloid and tau. Curr Genet Med Res 2014; 2(1):23-29. PMCID:  PMC3979575.
  8. Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB. TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. JAMA Neurol 2014; 71(4):449-53. PMCID: PMC4087113
  9. Deming Y, Cruchaga C. TMEM106B: a strong FTLD disease modifier. Acta Neuropathol 2014; 127(3):419-22.
  10. Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, Bellenguez C, Brown K, Medway C, Haddick PC, van der Brug MP, Bhangale T, Ortmann W, Behrens T, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Turton J, Braae A, Barber I, Fagan AM, Holtzman DM, Morris JC; The 3C Study Group, the EADI consortium, the Alzheimer’s Disease Genetic Consortium (ADGC), Alzheimer’s Disease Neuroimaging Initiative (ADNI), the GERAD Consortium, Williams J, Kauwe JS, Amouyel P, Morgan K, Singleton A, Hardy J, Goate AM, Cruchaga C. Missense variant in TREML2 protects against Alzheimer’s disease. Neurobiol Aging 2014; 35(6):1510. PMCID: PMC3961557
  11. Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, , Cairns N, Morris JC, Kauwe JS, Goate AM. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. Nature 2014; 505(7484):550-4.  PMCID: PMC4050701
2013
  1. Benitez BA, and Cruchaga C. TREM2 p.R47H variant increases risk for Parkinson’s Disease. N Engl J Med 2013; 369(16):1564-70
  2. Benitez BA, Cruchaga C; United States–Spain Parkinson’s Disease Research Group.  TREM2 and neurodegenerative disease.  N Engl J Med 2013; 369(16):1567-8. PMCID:PMC4380008
  3. Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Alzheimer’s Disease Neuroimaging Initiative (ADNI), Genetic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD), Hotlzman D, Morris JC, Goate AM, Cruchaga C. The PSEN1, p.E318G Variant Increases the Risk of Alzheimer’s Disease in APOE-ε4 Carriers. PLoS Genetics 2013; 9(8): e1003685. PMCID: PMC3750021
  4. Karch CM, Jeng AT, Skorupa T, Cruchaga C, Goate AM. Novel progranulin variants do not disrupt progranulin secretion and cleavage. Neurobiol Aging 2013; 34(11):2538-40. PMCID: PMC3745590
  5. Harms M, Benitez B, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud T.M, Boeve B.F, Graff-Radford N.R, Mayeux R, Chakraverty S, Goate AM., and Cruchaga C, for the NIA-LOAD/NCRAD Family Study Consortium. C9ORF72 hexanucleotide repeat expansions in clinical Alzheimer’s disease. JAMA Neuro 2013; 70(6):736-41.   PMCID: PMC3681841
  6. Cruchaga C, Kauwe JSK, Harari O, Jin SC, Cai Y, Karch CM, Benitez B, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Fagan AN, Holtzman DM, Morris JC, the Alzheimer Disease Genetic Consortium (ADGC), Alzheimer’s Disease Neuroimaging Initiative (ADNI), the GERAD Consortium, and Alison M. Goate. GWAS of cerebrospinal fluid tau levels identifies novel risk variants for Alzheimer’s disease. Neuron 2013; 78(2):256-68. PMCID: PMC3664945
  7. Benitez BA, Cooper B, Pastor P, Jin SC, Lorenzo E, Cervantes S, Cruchaga C. TREM2 is associated with the risk of Alzheimer’s disease in Spanish population. Neurobiol Aging  2013; 34(6):1711.  PMCID: PMC3596468
  8. Harms M, Neumann, Benitez B, Cooper B, Cooper P, Carrell D, Racette BA, Perlmutter JS, Goate AM and Cruchaga C. Parkinson Disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging. 2013; 34(5):1519.  PMCID: PMC3566343
  9. Karch CM, Jeng AT, Nowotny P, Cady J, Cruchaga C, Goate AM. Expression of novel Alzheimer’s disease risk genes in control and Alzheimer’s disease brains. PLoS One 2012; 7(11):e50976. PMCID: PMC3511432